ClinVar for Gene (Select 5110) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210345	NM_001360452.2(PCMT1):c.-107C>T	PCMT1 (A23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210344	NM_001360452.2(PCMT1):c.-139C>A	PCMT1 (D12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684457	GRCh37/hg19 6q25.1(chr6:150127440-150330806)x3	LRP11, PCMT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2656993	NM_001360452.2(PCMT1):c.639C>T (p.Tyr213=)	PCMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617925	NM_001360452.2(PCMT1):c.-7C>G	PCMT1 (C56W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343846	NM_001360452.2(PCMT1):c.615G>T (p.Met205Ile)	PCMT1 (M228I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275788	NM_001360452.2(PCMT1):c.383C>A (p.Pro128Gln)	PCMT1 (P128Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269269	NM_001360452.2(PCMT1):c.461A>G (p.Asp154Gly)	PCMT1 (D154G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224228	NM_001360452.2(PCMT1):c.-141G>T	PCMT1 (D12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210860	NM_001360452.2(PCMT1):c.386C>T (p.Thr129Ile)	PCMT1 (T187I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26